{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:07Z","timestamp":1753883527419,"version":"3.41.2"},"reference-count":7,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"vor","delay-in-days":41,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>HDR syndrome is a rare genetic disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness, and renal disease. Here, we report case of a 9-month-old male with history of hydronephrosis and sensorineural deafness who presented with febrile seizures. He was found to have hypocalcemia and inappropriately normal parathyroid hormone. His neurologic and infectious workup were negative. Genetic testing revealed a nonsense mutation in the GATA3 gene, consistent with HDR syndrome. Hypocalcemia was responsive to calcium carbonate and calcitriol treatment. This case highlights hypocalcemia caused by hypoparathyroidism as a potential etiology of seizures. When hypoparathyroidism is detected with either hearing loss or renal disease, HDR syndrome should be considered, and other features of the syndrome should be investigated.<\/jats:p>","DOI":"10.1210\/jcemcr\/luac025","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T02:05:55Z","timestamp":1673229955000},"source":"Crossref","is-referenced-by-count":6,"title":["Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3366-5677","authenticated-orcid":false,"given":"Anne","family":"Gandolfi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Rush University Medical Center Rush Pediatric Residency Program , Chicago, IL 60612 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Ratnasamy","sequence":"additional","affiliation":[{"name":"Department of Combined Internal Medicine-Pediatrics, Rush University Medical Center , Chicago, IL 60612 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Minutti","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Rush University Medical Center , Chicago, IL 60612 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"issue":"1","key":"2023100215455611400_luac025-B1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(77)80445-9","article-title":"Familial nephrosis, nerve deafness, and hypoparathyroidism","volume":"91","author":"Barakat","year":"1977","journal-title":"J Pediatr"},{"issue":"15","key":"2023100215455611400_luac025-B2","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1056\/NEJM199210083271506","article-title":"Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia","volume":"327","author":"Bilous","year":"1992","journal-title":"N Engl J Med"},{"issue":"9","key":"2023100215455611400_luac025-B3","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1007\/PL00000940","article-title":"Transcription factor GATA3 and the human HDR syndrome","volume":"58","author":"Van Esch","year":"2001","journal-title":"Cell Mol Life Sci"},{"issue":"6","key":"2023100215455611400_luac025-B4","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1002\/ajmg.a.38693","article-title":"Barakat syndrome revisited","volume":"176","author":"Barakat","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2023100215455611400_luac025-B5","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3988\/jcn.2016.12.1.21","article-title":"Acute symptomatic seizures caused by electrolyte disturbances","volume":"12","author":"Nardone","year":"2016","journal-title":"J Clin Neurol"},{"issue":"1","key":"2023100215455611400_luac025-B6","doi-asserted-by":"crossref","first-page":"59","DOI":"10.6065\/apem.2015.20.1.59","article-title":"Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation","volume":"20","author":"Shim","year":"2015","journal-title":"Ann Pediatr Endocrinol Metab"},{"issue":"8","key":"2023100215455611400_luac025-B7","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1002\/humu.24052","article-title":"Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 years after the identification of the first GATA3 mutations","volume":"41","author":"Lemos","year":"2020","journal-title":"Hum Mutat"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/1\/luac025\/51825408\/luac025.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/1\/luac025\/51825408\/luac025.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T15:46:21Z","timestamp":1696261581000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luac025\/6974489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,29]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,11,29]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luac025","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,1,1]]},"published":{"date-parts":[[2022,11,29]]},"article-number":"luac025"}}